MENTORED PATIENT-ORIENTED RESEARCH CAREER DEVELOPMENT AW

(改编自申请人的摘要)：申请人的目标是 这个CAP奖项是为了培养成为 整合复杂遗传和临床信息的专家，以便 更全面地描述复杂的遗传性神经精神障碍。她 发展计划包括旨在整合临床和临床研究的重点研究 基因研究，以及课程工作、研究研讨会和 结构化的指导。她的研究议程旨在描述TS和 从临床和遗传学角度看其相关的共病。 具体地说，她将研究基因与基因之间的潜在相关性 单倍型和临床变量，如症状群和特殊 TS和TS谱系障碍的环境变量。这项建议具有 具体目标：1)扩大为遗传学研究收集的临床数据 进行更多的临床和流行病学调查。A)至 通过收集具体信息来仔细描述TS的现象学特征 关于各种临床变量的信息，并评估 研究中的强迫症(OCD)等共病 样本。B)评价选定环境的存在和程度 假设影响TS病程的变量(如出生创伤)； 2)评估高危单倍型与是否存在 缺乏特定临床变量的特定环境因素，如 有无共病或症状严重程度；3)至 识别和收集患有TS谱系障碍(如 慢性运动抽动障碍)，并用 关于相关的合并症、相关的环境因素，以及 是否存在高危TS单倍型；以及4)采集 来自其他人群的TS和TS谱系障碍的受试者 为了正式评估遗传、环境和 在本研究中确定的临床因素。具体目标将会实现 通过分析和关联从以下来源收集的临床和遗传信息 两个基因隔离的种群，哥斯达黎加中央山谷和 在美国的德系犹太人后裔的个人。临床 信息将以系统的方式收集，并将扩大到 包括有关症状类型和严重程度、存在和严重程度的信息 特定合并症的数量，以及特定环境的存在 假定与TS有关的因素。一个额外的研究样本将 以研究这些变量对TS频谱的作用 精神错乱。临床和遗传信息将被分析和关联 使用各种统计方法进行了探索。

(Adapted from the applicant's abstract): The applicant's goal for this CAP award is to develop the multidisciplinary skills necessary to become expert in integrating complex genetic and clinical information in order to more fully characterize complex genetic neuropsychiatric disorders. Her developmental plans include focused research aimed at integrating clinical and genetic studies, as well as a program of course work, research seminars, and structured mentoring. Her research agenda is aimed at characterizing TS and its associated comorbitities from both clinical and genetic perspectives. Specifically, she will investigate potential correlations between genetic haplotypes and clinical variables such as symptom clusters and particular environmental variables in TS and TS spectrum disorders. This proposal has specific aims: 1) to expand the clinical data collected for the genetic study of TS for additional clinical and epidemiological investigations. a) to carefully characterize the phenomenology of TS by collecting specific information on a variety of clinical variables, and to evaluate the extent of comorbid disorders such as obsessive compulsive disorder (OCD) in the study sample. b) to evaluate the presence and extent of selected environmental variables (such as birth trauma) hypothesized to influence the course of TS; 2) to evaluate the relationship of high risk haplotypes and the presence or absence of specific environmental factors to specific clinical variables, such as presence or absence of comorbid disorders or symptom severity; 3) to identify and collect a sample of individuals with TS-spectrum disorders (such as chronic motor tic disorder), and to characterize these disorders with regard to associated comorbidities, associated environmental factors, and presence or absence of high risk TS aplotypes; and 4) to collect a sample of subjects with TS and TS-spectrum disorders from additional populations in order to formally assess relationships between genetic, environmental, and clinical factors identified in this study. The specific aims will be achieved by analyzing and correlating clinical and genetic information gathered from two genetically isolated populations, the Central Valley of Costa Rica and individuals of Ashkenazi Jewish descent in the United States. Clinical information will be collected in a systematic way, and will be expanded to include information on symptom types and severity, presence and severity of number of specific comorbidities, and presence of specific environmental factors postulated to be associated with TS. An additional study sample will be collected to investigate the role of these variables on TS spectrum disorders. Clinical and genetic information will be analyzed and correlations explored using a variety of statistical measures.